Biomaterial Database

Autosomal recessive polycystic kidney disease. 1996

K Zerres, and S Rudnik-Schöneborn, and C Steinkamm, and G Mücher

Institut für Humangenetik, Universität Bonn, Germany.

Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood. With increasing knowledge and improving diagnostic techniques it has become evident that the spectrum of ARPKD is much more variable than was previously thought. Presentation of ARPKD at later ages and survival into adulthood is well known. Diagnostic criteria, clinical course, genetics and differential diagnosis of ARPKD are presented.

UI	MeSH Term	Description	Entries
D011296	Prenatal Diagnosis	Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.	Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D002874	Chromosome Mapping	Any method used for determining the location of and relative distances between genes on a chromosome.	Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002896	Chromosomes, Human, Pair 6	A specific pair GROUP C CHROMSOMES of the human chromosome classification.	Chromosome 6
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015994	Incidence	The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from PREVALENCE, which refers to all cases in the population at a given time.	Attack Rate,Cumulative Incidence,Incidence Proportion,Incidence Rate,Person-time Rate,Secondary Attack Rate,Attack Rate, Secondary,Attack Rates,Cumulative Incidences,Incidence Proportions,Incidence Rates,Incidence, Cumulative,Incidences,Person time Rate,Person-time Rates,Proportion, Incidence,Rate, Attack,Rate, Incidence,Rate, Person-time,Rate, Secondary Attack,Secondary Attack Rates
D016019	Survival Analysis	A class of statistical procedures for estimating the survival function (function of time, starting with a population 100% well at a given time and providing the percentage of the population still well at later times). The survival analysis is then used for making inferences about the effects of treatments, prognostic factors, exposures, and other covariates on the function.	Analysis, Survival,Analyses, Survival,Survival Analyses
D016891	Polycystic Kidney, Autosomal Dominant	Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.	Autosomal Dominant Polycystic Kidney,Kidney, Polycystic, Autosomal Dominant,ADPKD,Adult Polycystic Kidney Disease,Adult Polycystic Kidney Disease Type 1,Adult Polycystic Kidney Disease Type 2,Polycystic Kidney Disease 2,Polycystic Kidney Disease, Adult,Polycystic Kidney Disease, Adult Type 2,Polycystic Kidney Disease, Adult, Type II,Polycystic Kidney Disease, Autosomal Dominant,Polycystic Kidney Disease, Type 2,Polycystic Kidney, Type 1 Autosomal Dominant Disease,Polycystic Kidney, Type 2 Autosomal Dominant Disease